UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.108582898_108582915dup | CA2695235194 | COL4A5 | c.951_968dup (p.Gly322_Glu323insAspProGlyTyrProGly) n.407_424dup c.627_644dup (p.Gly214_Glu215insAspProGlyTyrProGly) c.966_983dup (p.Gly327_Glu328insAspProGlyTyrProGly) c.-759_-742dup (n.-759_-742dup) | |
| X | g.108582904_108582921dup | CA2695235195 | COL4A5 | c.957_974dup (p.Gly325_Arg326insTyrProGlyGluProGly) n.413_430dup c.633_650dup (p.Gly217_Arg218insTyrProGlyGluProGly) c.972_989dup (p.Gly330_Arg331insTyrProGlyGluProGly) c.-753_-736dup (n.-753_-736dup) | |
| X | g.108582904_108582921del | CA2739289603 | COL4A5 | c.957_974del (p.Tyr320_Gly325del) n.413_430del c.633_650del (p.Tyr212_Gly217del) c.972_989del (p.Tyr325_Gly330del) c.-753_-736del (n.-753_-736del) | |
| X | g.108582912G>A | CA413927583 | COL4A5 | c.965G>A (p.Gly322Asp) n.421G>A c.641G>A (p.Gly214Asp) c.980G>A (p.Gly327Asp) c.-745G>A (n.-745G>A) | |
| X | g.108582912G>C | CA413927591 | COL4A5 | c.965G>C (p.Gly322Ala) n.421G>C c.641G>C (p.Gly214Ala) c.980G>C (p.Gly327Ala) c.-745G>C (n.-745G>C) | gnomAD v4 |
| X | g.108582912G= | CA2450683809 | COL4A5 | c.965G= (p.Gly322=) n.421G= c.641G= (p.Gly214=) c.980G= (p.Gly327=) c.-745G= (n.-745G=) | |
| X | g.108582912G>T | CA413927587 | COL4A5 | c.965G>T (p.Gly322Val) n.421G>T c.641G>T (p.Gly214Val) c.980G>T (p.Gly327Val) c.-745G>T (n.-745G>T) | |
| X | g.108582913T>A | CA517991972 | COL4A5 | c.966T>A (p.Gly322=) n.422T>A c.642T>A (p.Gly214=) c.981T>A (p.Gly327=) c.-744T>A (n.-744T>A) | |
| X | g.108582913T>C | CA517991973 | COL4A5 | c.966T>C (p.Gly322=) n.422T>C c.642T>C (p.Gly214=) c.981T>C (p.Gly327=) c.-744T>C (n.-744T>C) | |
| X | g.108582913T>G | CA517991974 | COL4A5 | c.966T>G (p.Gly322=) n.422T>G c.642T>G (p.Gly214=) c.981T>G (p.Gly327=) c.-744T>G (n.-744T>G) | |
| X | g.108582914G>A | CA413927603 | COL4A5 | c.967G>A (p.Glu323Lys) n.423G>A c.643G>A (p.Glu215Lys) c.982G>A (p.Glu328Lys) c.-743G>A (n.-743G>A) | |
| X | g.108582914G>C | CA413927604 | COL4A5 | c.967G>C (p.Glu323Gln) n.423G>C c.643G>C (p.Glu215Gln) c.982G>C (p.Glu328Gln) c.-743G>C (n.-743G>C) | |
| X | g.108582914G>T | CA413927605 | COL4A5 | c.967G>T (p.Glu323Ter) n.423G>T c.643G>T (p.Glu215Ter) c.982G>T (p.Glu328Ter) c.-743G>T (n.-743G>T) | |
| X | g.108582915A>C | CA413927606 | COL4A5 | c.968A>C (p.Glu323Ala) n.424A>C c.644A>C (p.Glu215Ala) c.983A>C (p.Glu328Ala) c.-742A>C (n.-742A>C) | |
| X | g.108582915A>G | CA413927608 | COL4A5 | c.968A>G (p.Glu323Gly) n.424A>G c.644A>G (p.Glu215Gly) c.983A>G (p.Glu328Gly) c.-742A>G (n.-742A>G) | |
| X | g.108582915A>T | CA413927610 | COL4A5 | c.968A>T (p.Glu323Val) n.424A>T c.644A>T (p.Glu215Val) c.983A>T (p.Glu328Val) c.-742A>T (n.-742A>T) | |
| X | g.108582916A>C | CA413927613 | COL4A5 | c.969A>C (p.Glu323Asp) n.425A>C c.645A>C (p.Glu215Asp) c.984A>C (p.Glu328Asp) c.-741A>C (n.-741A>C) | |
| X | g.108582916A>G | CA517991975 | COL4A5 | c.969A>G (p.Glu323=) n.425A>G c.645A>G (p.Glu215=) c.984A>G (p.Glu328=) c.-741A>G (n.-741A>G) | gnomAD v4 |
| X | g.108582916A>T | CA413927617 | COL4A5 | c.969A>T (p.Glu323Asp) n.425A>T c.645A>T (p.Glu215Asp) c.984A>T (p.Glu328Asp) c.-741A>T (n.-741A>T) | |
| X | g.108582917C>A | CA413927621 | COL4A5 | c.970C>A (p.Pro324Thr) n.426C>A c.646C>A (p.Pro216Thr) c.985C>A (p.Pro329Thr) c.-740C>A (n.-740C>A) | |
| X | g.108582917C= | CA2450683810 | COL4A5 | c.970C= (p.Pro324=) n.426C= c.646C= (p.Pro216=) c.985C= (p.Pro329=) c.-740C= (n.-740C=) | |
| X | g.108582917C>G | CA413927623 | COL4A5 | c.970C>G (p.Pro324Ala) n.426C>G c.646C>G (p.Pro216Ala) c.985C>G (p.Pro329Ala) c.-740C>G (n.-740C>G) | |
| X | g.108582917C>T | CA258376 | COL4A5 | c.970C>T (p.Pro324Ser) n.426C>T c.646C>T (p.Pro216Ser) c.985C>T (p.Pro329Ser) c.-740C>T (n.-740C>T) | dbSNP |
| X | g.108582919del | CA2695235196 | COL4A5 | c.972del (p.Gly325GlufsTer21) n.428del c.648del (p.Gly217GlufsTer21) c.987del (p.Gly330GlufsTer21) c.-738del (n.-738del) | |
| X | g.108582918C>A | CA413927636 | COL4A5 | c.971C>A (p.Pro324His) n.427C>A c.647C>A (p.Pro216His) c.986C>A (p.Pro329His) c.-739C>A (n.-739C>A) | |
| X | g.108582918C>G | CA413927632 | COL4A5 | c.971C>G (p.Pro324Arg) n.427C>G c.647C>G (p.Pro216Arg) c.986C>G (p.Pro329Arg) c.-739C>G (n.-739C>G) | gnomAD v4 |
| X | g.108582918C>T | CA413927627 | COL4A5 | c.971C>T (p.Pro324Leu) n.427C>T c.647C>T (p.Pro216Leu) c.986C>T (p.Pro329Leu) c.-739C>T (n.-739C>T) | |
| X | g.108582919C>A | CA517991976 | COL4A5 | c.972C>A (p.Pro324=) n.428C>A c.648C>A (p.Pro216=) c.987C>A (p.Pro329=) c.-738C>A (n.-738C>A) | |
| X | g.108582919C= | CA2450683811 | COL4A5 | c.972C= (p.Pro324=) n.428C= c.648C= (p.Pro216=) c.987C= (p.Pro329=) c.-738C= (n.-738C=) | |
| X | g.108582919C>G | CA517991977 | COL4A5 | c.972C>G (p.Pro324=) n.428C>G c.648C>G (p.Pro216=) c.987C>G (p.Pro329=) c.-738C>G (n.-738C>G) | |
| X | g.108582919C>T | CA10488635 | COL4A5 | c.972C>T (p.Pro324=) n.428C>T c.648C>T (p.Pro216=) c.987C>T (p.Pro329=) c.-738C>T (n.-738C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.108582920G>A | CA255262 | COL4A5 | c.973G>A (p.Gly325Arg) n.429G>A c.649G>A (p.Gly217Arg) c.988G>A (p.Gly330Arg) c.-737G>A (n.-737G>A) | ClinVar dbSNP gnomAD v4 |
| X | g.108582920G>C | CA413927642 | COL4A5 | c.973G>C (p.Gly325Arg) n.429G>C c.649G>C (p.Gly217Arg) c.988G>C (p.Gly330Arg) c.-737G>C (n.-737G>C) | ClinVar dbSNP |
| X | g.108582920G= | CA2450683812 | COL4A5 | c.973G= (p.Gly325=) n.429G= c.649G= (p.Gly217=) c.988G= (p.Gly330=) c.-737G= (n.-737G=) | |
| X | g.108582920G>T | CA258379 | COL4A5 | c.973G>T (p.Gly325Ter) n.429G>T c.649G>T (p.Gly217Ter) c.988G>T (p.Gly330Ter) c.-737G>T (n.-737G>T) | dbSNP COSMIC |
| X | g.108582921G>A | CA255266 | COL4A5 | c.974G>A (p.Gly325Glu) n.430G>A c.650G>A (p.Gly217Glu) c.989G>A (p.Gly330Glu) c.-736G>A (n.-736G>A) | ClinVar dbSNP |
| X | g.108582921G>C | CA413927652 | COL4A5 | c.974G>C (p.Gly325Ala) n.430G>C c.650G>C (p.Gly217Ala) c.989G>C (p.Gly330Ala) c.-736G>C (n.-736G>C) | |
| X | g.108582921G= | CA2450683813 | COL4A5 | c.974G= (p.Gly325=) n.430G= c.650G= (p.Gly217=) c.989G= (p.Gly330=) c.-736G= (n.-736G=) | |
| X | g.108582921G>T | CA413927658 | COL4A5 | c.974G>T (p.Gly325Val) n.430G>T c.650G>T (p.Gly217Val) c.989G>T (p.Gly330Val) c.-736G>T (n.-736G>T) | |
| X | g.108582922A>C | CA517991978 | COL4A5 | c.975A>C (p.Gly325=) n.431A>C c.651A>C (p.Gly217=) c.990A>C (p.Gly330=) c.-735A>C (n.-735A>C) | |
| X | g.108582922A>G | CA517991979 | COL4A5 | c.975A>G (p.Gly325=) n.431A>G c.651A>G (p.Gly217=) c.990A>G (p.Gly330=) c.-735A>G (n.-735A>G) | |
| X | g.108582922A>T | CA517991980 | COL4A5 | c.975A>T (p.Gly325=) n.431A>T c.651A>T (p.Gly217=) c.990A>T (p.Gly330=) c.-735A>T (n.-735A>T) | |
| X | g.108582923del | CA2694413837 | COL4A5 | c.976del (p.Arg326GlyfsTer20) n.432del c.652del (p.Arg218GlyfsTer20) c.991del (p.Arg331GlyfsTer20) c.-734del (n.-734del) | gnomAD v4 |
| X | g.108582923A>C | CA517991981 | COL4A5 | c.976A>C (p.Arg326=) n.432A>C c.652A>C (p.Arg218=) c.991A>C (p.Arg331=) c.-734A>C (n.-734A>C) | |
| X | g.108582923A>G | CA413927661 | COL4A5 | c.976A>G (p.Arg326Gly) n.432A>G c.652A>G (p.Arg218Gly) c.991A>G (p.Arg331Gly) c.-734A>G (n.-734A>G) | |
| X | g.108582923A>T | CA413927676 | COL4A5 | c.976A>T (p.Arg326Trp) n.432A>T c.652A>T (p.Arg218Trp) c.991A>T (p.Arg331Trp) c.-734A>T (n.-734A>T) | |
| X | g.108582924G>A | CA413927677 | COL4A5 | c.977G>A (p.Arg326Lys) n.433G>A c.653G>A (p.Arg218Lys) c.992G>A (p.Arg331Lys) c.-733G>A (n.-733G>A) | |
| X | g.108582924G>C | CA413927689 | COL4A5 | c.977G>C (p.Arg326Thr) n.433G>C c.653G>C (p.Arg218Thr) c.992G>C (p.Arg331Thr) c.-733G>C (n.-733G>C) | |
| X | g.108582924G>T | CA413927691 | COL4A5 | c.977G>T (p.Arg326Met) n.433G>T c.653G>T (p.Arg218Met) c.992G>T (p.Arg331Met) c.-733G>T (n.-733G>T) | |
| X | g.108582925G>A | CA517991982 | COL4A5 | c.978G>A (p.Arg326=) n.434G>A c.654G>A (p.Arg218=) c.993G>A (p.Arg331=) c.-732G>A (n.-732G>A) |